2112
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Protein phosphatase 2 regulatory subunit B'delta |
B56D, B56delta, HJS1, MRD35 |
Curated: Neurodevelopmental disorder, Global developmental delay, Houge janssens syndrome, Intellectual developmental disorder, Intellectual developmental disorder growth behavioral, Intellectual developmental disorder macrocephaly hypotonia behavioral, Non-specific syndromic intellectual disability, complex neurodevelopmental disorder
Unreviewed: Autism, Autism spectrum disorder, Colorectal neoplasm, Congenital abnormalities, Congenital Torticollis, Developmental Delay, Developmental disability, Developmental dysplasia of the hip, Dysmorphic Features, Hepatitis c, Hydrocephalus, Hypoglycemia, Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome, Macrocephaly, Mental retardation, Motor skills disorder, Multiple sclerosis, Myopia, Neurodevelopmental Disorders, Osteogenesis imperfecta, Ovarian neoplasm, Psychiatric disorders, Secondary parkinson disease, Seizures, Speech Delay, Stomach neoplasms, Strabismus
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2113
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Protein phosphatase 2 regulatory subunit B'epsilon |
B56E, B56epsilon |
Curated: Bronchial disease, Bronchitis, Chromosomal instability, Gallbladder neoplasms, Schizophrenia, Scoliosis
Unreviewed: Breast Cancer, Breast Carcinoma, Breast neoplasm, Colorectal Cancer, Colorectal neoplasm, Diffuse Lymphoma, Fragile X Syndrome, Glioblastoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Neoplasms, Sarcoma, Stomach Carcinoma, Stomach Neoplasms
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2114
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Protein phosphatase 3 catalytic subunit alpha |
ACCIID, CALN, CALNA, CALNA1, CCN1, CNA1, DEE91, IECEE, IECEE1, PPP2B |
Curated: Anorexia nervosa, Appendicitis, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Nonsyndromic intellectual disability, Brain injuries, Epithelial ovarian carcinoma, Color vision deficiency, Craniosynostosis, Developmental and epileptic encephalopathy, Developmental disability, Eating disorder, Gastroesophageal reflux disease, Hepatolenticular degeneration, Hypertrophy, Insomnia, Intellectual developmental disorder, Keratoconus, Left ventricular disease, Osteoarthritis, Pancreatitis, Prostatic neoplasms, Psychiatric disorders, Testicular disease, Diabetes mellitus type 2, Vitiligo
Unreviewed: Adenocarcinoma, Adrenal Gland Pheochromocytoma, Alzheimer disease, Anaplastic thyroid cancer, Angina pectoris, Angle closure glaucoma, Arteriosclerosis, Arthritis, Arthrogryposis, Arthrogryposis multiplex congenita, Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development, Atherosclerosis, Atrial Fibrillation, Atrial Septal Defect, Attention Deficit Hyperactivity Disorder, Autism, Autoimmune Diseases, Barrett esophagus, Benign Prostatic Hyperplasia, Bladder Exstrophy, Bone Disease, Brachydactyly, Brain disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchopulmonary Dysplasia, Carcinogenesis, Carcinoma, Cardiomyopathy, Cardiovascular disease, Carotid artery stenosis, Cataract, Cerebral Atrophy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chronic Obstructive Pulmonary Disease, Cleft palate, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital abnormalities, Congenital Contractural Arachnodactyly, Congenital Heart Disease, Congestive Heart Failure, Cornea Plana, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Coronary restenosis, Coronary Syndrome, Crohn disease, Dementia, Dermatitis, Dermatomyositis, Developmental Delay, Developmental regression, Diabetes, Diabetes Mellitus, Diabetic Retinopathy, Disorder Of Eye, Down syndrome, Ductal Carcinoma, Dwarfism, Dyskinetic Syndrome, Dysmorphic Features, Dysmorphism, Eclampsia, Edema, Emphysema, Endocrine system disease, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid cancer, Endometriosis, Epilepsy, Epileptic encephalopathy, Epiretinal Membrane, Epispadias, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Estrogen Resistance, Gastroesophageal Reflux Disease, Giant Cell Arteritis, Glioblastoma, Glioma, Glycogen storage disease, Graves Disease, Graves ophthalmopathy, Heart Failure, Hematologic disease, Hematological Disease, Hepatocellular carcinoma, Hepatolenticular Degeneration, Hereditary breast and ovarian cancer syndrome, Hydronephrosis, Hyperglycemia, Hypertension, Hypertrophic cardiomyopathy, Hypodontia, Hypoxia, Impaired Cognition, Inflammatory bowel disease, Intracranial arteriovenous malformation, Invasive Duct and Lobular Carcinoma, Ischemic myocardial dysfunction, Keratocystic Odontogenic Tumor, Kidney Disease, Kidney Failure, Language Disorders, Laryngeal neoplasm, Left Ventricular Hypertrophy, Leiomyoma, Leukemia, Liver carcinoma, Liver Fibrosis, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Macular degeneration, Malignant Neoplasm, Mammary Neoplasms, Mantle Cell Lymphoma, Marfan Syndrome, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Mental retardation, Metabolic Syndrome, Microcephaly, Micrognathism, Monoclonal Gammapathies, Multiple Congenital Anomalies, Multiple myeloma, Multiple Trichoepithelioma, Myelodysplastic Syndrome, Myelofibrosis, Myeloid Leukemia, Myocardial infarction, Myocardial Ischemia, Myoclonic Seizures, Nasal polyposis, Neoplasms, Nephroblastoma, Neuroblastoma, Neurodevelopmental Disorders, Neurofibromatosis, Non-Specifi Epileptic Encephalopathy, Non-Syndromic Intellectual Disability, Nystagmus, Obesity, Oestrogen Receptor Positive Breast Cancer, Optic Atrophy, Osteonecrosis, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian serous adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Papillary thyroid cancer, Peripheral arterial disease, Pheochromocytoma, Pigmentary Disorder, Reticulate, With Systemic Manifestations, Plagiocephaly, Plexiform neurofibroma, Polycystic Ovary Syndrome, Polymyositis, Proliferative Diabetic Retinopathy, Prostate cancer, Prostatic hyperplasia, Prostatic neoplasm, Prostatic Neoplasms, Psoriasis, Psoriasis vulgaris, Psoriatic arthritis, Ptosis, Pulmonary arterial hypertension, Pulmonary Emphysema, Pulmonary Fibrosis, Renal Carcinoma, Renal cell carcinoma, Retinal Diseases, Retinitis Pigmentosa, Retinopathy, Rheumatoid arthritis, Schizophrenia, Scleroderma, Seizure, Seizures, Senile Dementia, Septal Hypertrophy, Septicemia, Serous Cystadenoma Of Ovary, Severe combined immunodeficiency disease, Skin Erosion, Skin Lesion, Skin neoplasm, Skin Neoplasms, Small cell lung carcinoma, Squamous cell carcinoma, ST Segment Elevation Myocardial Infarction, Stable Angina, Status Epilepticus, Stomach Carcinoma, Stomach Neoplasms, Subarachnoid hemorrhage, Syndromic microphthalmia, Systemic sclerosis, Talipes, Testicular Diseases, Thymoma, Thyroid cancer, Thyroid Carcinoma, Thyroid eye disease, Trigonocephaly, Triple negative breast cancer, Triple Negative Breast Neoplasms, Ulcerative colitis, Uterine Fibroids, Uterine neoplasm, Uveal Melanoma, Variegate Porphyria, Vascular disease, Vascular Diseases, Vascular system injury, Ventricular hypertrophy, Vesicoureteral Reflux
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2116
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Protein phosphatase 3 catalytic subunit beta |
CALNA2, CALNB, CNA2, PP2Bbeta |
Curated: Congenital stenosis of aortic valve, Hepatolenticular degeneration
Unreviewed: Aortic Valve Sclerosis, Bipolar Disorder, Cornea Plana, Hepatolenticular Degeneration, Hyperglycemia, Neoplasms, Neuroblastoma, Pancreatic neoplasm, Pancreatitis, Schizophrenia
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2118
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Protein phosphatase 3 catalytic subunit gamma |
CALNA3, CNA3, PP2Bgamma |
Curated: Bipolar disorder, Major depressive disorder, Genetic predisposition to disease, Keratoconus, Non-organic psychosis, Psychotic disorders, Schizophrenia, Urinary bladder neoplasms
Unreviewed: Asthenozoospermia, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Brain injuries, Epithelial ovarian carcinoma, Hypertension, Mental Depression, Nonorganic Psychosis, Obesity, Pancreatic neoplasm, Prostatic neoplasm, Prostatic Neoplasms, Psychosis, Urinary bladder cancer
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2119
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Protein phosphatase 3 regulatory subunit B, alpha |
CALNB1, CNB, CNB1 |
Curated: Alzheimer disease, Dilated cardiomyopathy, Hypertrophy, Left ventricular disease, Myocardial ischemia, Prostate cancer, Schizophrenia
Unreviewed: Amyloidosis, Atrial fibrillation, Breast Cancer, Breast Carcinoma, Breast Hyperplasia, Cardiomyopathy, Cervical lymphadenopathy, Colitis, Cornea Plana, Coronary artery disease, Dementia, Hearing loss, Hypertension, Left Ventricular Hypertrophy, Lymphatic metastasis, Malignant Neoplasm, Membranous Glomerulonephritis, Myocardial Ischemia, Neuroblastoma, Paraplegia, Parkinson disease, Psoriasis, Stomach neoplasms, Thyroid Nodule, Trigeminal neuralgia, Ventricular hypertrophy, Willis-ekbom disease
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